CYTOGENETIC, BIOCHEMICAL, AND MOLECULAR ANALYSES OF A 22Q13 DELETION

被引：45

作者：

PHELAN, MC

THOMAS, GR

SAUL, RA

ROGERS, RC

TAYLOR, HA

WENGER, DA

MCDERMID, HE

机构：

[1] UNIV ALBERTA,DEPT GENET,EDMONTON T6G 2E1,ALBERTA,CANADA

[2] THOMAS JEFFERSON UNIV,JEFFERSON MED COLL,DIV MED GENET,PHILADELPHIA,PA 19107

[3] HOSP SICK CHILDREN,TORONTO M5G 1X8,ONTARIO,CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 05期

关键词：

DEL(22Q); ARYLSULFATASE-A PSEUDODEFICIENCY; ALPHA-N-ACETYLGALACTOSAMINIDASE; D22S45; D22S55;

D O I：

10.1002/ajmg.1320430524

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 3-year-old boy with a terminal deletion of 22q. The activity of alpha-N-acetylgalactosaminidase was normal while arylsulfatase A activity was reduced. Molecular analysis demonstrated the lack of paternal alleles of D22S45 and D22S55.

引用

页码：872 / 876

页数：5

共 39 条

[1]

AURIAS A, 1983, NEW ENGL J MED, V309, P496

[2] THE ASSAY OF ARYLSULPHATASE-A AND ARYLSULPHATASE-B IN HUMAN URINE [J].

BAUM, H ;

DODGSON, KS ;

SPENCER, B .

CLINICA CHIMICA ACTA, 1959, 4 (03) :453-455

[3] NEW TRANSLOCATION IN BURKITTS TUMOR-CELLS [J].

BERGER, R ;

BERNHEIM, A ;

WEH, HJ ;

FLANDRIN, G ;

DANIEL, MT ;

BROUET, JC ;

COLBERT, N .

HUMAN GENETICS, 1979, 53 (01) :111-112

[4] ISOLATION AND REGIONAL LOCALIZATION OF 35 UNIQUE ANONYMOUS DNA MARKERS FOR HUMAN-CHROMOSOME 22 [J].

BUDARF, ML ;

MCDERMID, HE ;

SELLINGER, B ;

EMANUEL, BS .

GENOMICS, 1991, 10 (04) :996-1002

[5] A DELETION IN CHROMOSOME-22 CAN CAUSE DIGEORGE SYNDROME [J].

DELACHAPELLE, A ;

HERVA, R ;

KOIVISTO, M ;

AULA, P .

HUMAN GENETICS, 1981, 57 (03) :253-256

[6] DELETION MAPPING OF A LOCUS ON HUMAN CHROMOSOME-22 INVOLVED IN THE ONCOGENESIS OF MENINGIOMA [J].

DUMANSKI, JP ;

CARLBOM, E ;

COLLINS, VP ;

NORDENSKJOLD, M .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (24) :9275-9279

[7] A MAP OF 22 LOCI ON HUMAN CHROMOSOME-22 [J].

DUMANSKI, JP ;

CARLBOM, E ;

COLLINS, VP ;

NORDENSKJOLD, M ;

EMANUEL, BS ;

BUDARF, ML ;

MCDERMID, HE ;

WOLFF, R ;

OCONNELL, P ;

WHITE, R ;

LALOUEL, JM ;

LEPPERT, M .

GENOMICS, 1991, 11 (03) :709-719

[8] REEVALUATION OF THE SUPERNUMERARY CHROMOSOME IN AN INDIVIDUAL WITH CAT EYE SYNDROME [J].

DUNCAN, AMV ;

ROSENFELD, W ;

VERMA, RS .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 27 (01) :225-227

[9] A TECHNIQUE FOR RADIOLABELING DNA RESTRICTION ENDONUCLEASE FRAGMENTS TO HIGH SPECIFIC ACTIVITY [J].

FEINBERG, AP ;

VOGELSTEIN, B .

ANALYTICAL BIOCHEMISTRY, 1983, 132 (01) :6-13

[10] THE 11Q-22Q TRANSLOCATION - A EUROPEAN COLLABORATIVE ANALYSIS OF 43 CASES [J].

FRACCARO, M ;

LINDSTEN, J ;

FORD, CE ;

ISELIUS, L ;

ANTONELLI, A ;

AULA, P ;

AURIAS, A ;

BAIN, AD ;

BARTSCHSANDHOFF, M ;

BERNARDI, F ;

BOYD, E ;

BUCHANAN, LF ;

CAMERON, AH ;

DELACHAPELLE, A ;

CIUFFA, G ;

CUOCO, C ;

DUTRILLAUX, B ;

DUTTON, G ;

FERGUSONSMITH, MA ;

FRANCESCONI, D ;

GERAEDTS, JPM ;

GIMELLI, G ;

GUEGUEN, J ;

GARSNER, E ;

HAGEMEIJER, A ;

HANSEN, FJ ;

HOLLINGS, PE ;

HUSTINX, TWJ ;

KAAKINEN, A ;

VANDEKAMP, JJP ;

KOSKULL, HV ;

LEJEUNE, J ;

LINDENBAUM, RH ;

MCCREANOR, HR ;

MIKKELSEN, M ;

MITELMAN, F ;

NICOLETTI, B ;

NILSBY, I ;

NILSSON, A ;

NOEL, B ;

PADOVANI, E ;

PASQUALI, F ;

PATER, JD ;

PEDERSEN, C ;

PETERSEN, F ;

ROBSON, EB ;

ROTMAN, J ;

RYYNANEN, M ;

SACHS, E ;

SALAT, J .

HUMAN GENETICS, 1980, 56 (01) :21-51

← 1 2 3 4 →